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November 2, 2024 53 mins
Andi and Jesse are married! For their wedding registry they asked their community to donate to an Undiagnosed Disease Fund, with the goal of raising enough money to provide genetic testing for an individual in need. Full genome sequencing can be helpful for individuals with a mystery illness, either to point towards an answer, or rule out upwards of 7,000 diseases in one test. This process was very helpful in Jesse's own search for a diagnosis, but his insurance would not cover the test. Andi gave Jesse a massive gift by purchasing full genome sequencing for him, and the couple have fantasized about providing this gift to others ever since. Andi and Jesse created a GoFundMe for their wedding registry, and have been absolutely astonished to already raise over $9,000. This means they can purchase genetic testing for at least 3 people! If you are in need of genetic testing to help diagnose a mystery illness, you can apply now to receive this gift. Email us at majorpainpodcast@gmail.com and tell us a bit about your health journey so far. You can also contribute to the Undiagnosed Disease Fund, in the hopes of helping more people! https://www.gofundme.com/f/our-registry-the-undiagnosed-disease-fund?attribution_id=sl:b2f12341-d3a8-4a01-8efc-588023fac387 PlayHere is a video from Andi and Jesse discussing their wedding registry, the Undiagnosed Disease Fund In this episode of the Major Pain podcast, Andi and Jesse discuss their wedding, the Undiagnosed Disease Fund, and an unexpected update to Jesse's health journey. While his own genetic testing did not reveal a diagnosis, new information has been provided by re-running his genome sequencing to report out carrier testing. He has tested as a carrier for a disease called cystathioninuria, which can cause movement disorder symptoms eerily similar to what Jesse has experienced. Although he is only a carrier and should not actually have the disease, he moved forward with blood work that shows evidence that he may have some form of this condition. Since cystathioninuria is so rare very little is known about it, and he is struggling to find information. Please reach out at majorpainpodcast@gmail.com if you have any relevant information to share! There is no video version of the podcast this week, as this episode was recorded in person instead of via Zoom. There will be no new podcasts for the remainder of November, while Andi and Jesse are on their honeymoon. We will be back with new episodes in December. Patreon subscribers can look forward to a special bonus episode, recorded from a honeymoon suite in Jamaica! Sign up on Patreon to gain access to all bonus episodes, receive special gifts, shoutouts and more: https://www.patreon.com/majorpainpodcast
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